NOTCH3, notch receptor 3, 4854

N. diseases: 31; N. variants: 54
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
disease Disease or Syndrome 1 44 0.800 None 1.000 24 44 1997 2016
CUI: C0751587
Disease: CADASIL Syndrome
CADASIL Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 2 0.700 None 0.983 0 2 1996 2020
CUI: C1851710
Disease: LATERAL MENINGOCELE SYNDROME
LATERAL MENINGOCELE SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 12 0.640 None 1.000 1 12 2015 2020
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
disease Neoplasms Disease or Syndrome 2 6 0.610 None 1.000 1 2013 2013
CUI: C3809084
Disease: MYOFIBROMATOSIS, INFANTILE, 2
MYOFIBROMATOSIS, INFANTILE, 2
disease Disease or Syndrome 1 7 0.600 limited 1.000 1 7 2013 2013
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 62 198 0.500 strong 0.973 1 2 1996 2020
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 17 12 0.500 strong 1.000 1 1996 2017
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group Nervous System Diseases Disease or Syndrome 13 119 0.500 strong 0.933 1 2000 2019
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 265 0.420 None 1.000 1 2005 2007
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 218 417 0.410 strong 1.000 1 2009 2018
CUI: C0206648
Disease: Myofibromatosis
Myofibromatosis
disease Neoplasms Neoplastic Process 2 1 0.410 None 1.000 1 2013 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 538 763 0.400 None 1.000 1 2007 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1074 1390 0.400 None 1.000 1 2007 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 507 203 0.400 None 0.875 1 2006 2019
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 14 125 0.400 strong 1.000 1 2007 2019
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 59 2 0.400 None 1.000 1 2017 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 156 132 0.400 None 0.938 1 2011 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 266 173 0.370 None 1.000 1 2005 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 124 66 0.360 None 0.857 1 2010 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 316 0.360 None 1.000 1 2007 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 27 0.310 strong 1.000 1 2009 2015
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 111 31 0.310 None 1.000 1 2010 2016
Squamous cell carcinoma of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 95 11 0.310 None 1.000 1 2014 2019
CUI: C0344487
Disease: Lateral meningocele
Lateral meningocele
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Anatomical Abnormality 1 0.310 None 1.000 1 2015 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 79 137 0.310 None 1.000 1 2010 2016